Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02247:Tecpr1'

286232

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Tecpr1

Ensembl Gene

ENSMUSG00000066621

Gene Name

tectonin beta-propeller repeat containing 1

Synonyms

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02247

Quality Score

Status

Chromosome

Chromosomal Location

144194442-144223615 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 144206554 bp

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 668 (F668L)

Ref Sequence

ENSEMBL: ENSMUSP00000082844 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000085701]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000085701
AA Change: F668L

PolyPhen 2 Score 0.644 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000082844
Gene: ENSMUSG00000066621
AA Change: F668L

Domain	Start	End	E-Value	Type
TECPR	23	59	8.98e1	SMART
DysFN	64	125	6.72e-24	SMART
DysFC	137	170	1.89e-9	SMART
TECPR	192	225	1.79e-1	SMART
TECPR	234	270	2.5e-9	SMART
TECPR	279	317	4.99e-9	SMART
TECPR	326	361	2.42e-7	SMART
low complexity region	381	394	N/A	INTRINSIC
PH	614	724	1.69e-2	SMART
TECPR	711	750	1.88e-4	SMART
TECPR	766	800	3.27e-4	SMART
DysFN	821	882	2.95e-20	SMART
DysFC	893	926	1.66e-14	SMART
TECPR	940	974	1.69e1	SMART
TECPR	983	1019	1.45e-5	SMART
TECPR	1028	1065	1.51e-8	SMART
TECPR	1074	1109	1.59e-2	SMART
low complexity region	1125	1137	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130962

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137149

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147992

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153103

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153751

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a tethering factor involved in autophagy. The encoded protein is found at autolysosomes, and is involved in targeting protein aggregates, damaged mitochondria, and bacterial pathogens for autophagy [provided by RefSeq, Nov 2012]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit impaired selective autophagy and abnormal response to bacterial infection in MEFs. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamtsl2	A	G	2: 27,084,893	R177G	probably damaging	Het
Ap3b1	T	C	13: 94,394,795		probably null	Het
Ascc3	A	C	10: 50,650,590	K595T	probably damaging	Het
Cnpy4	A	G	5: 138,192,863	T234A	probably benign	Het
Col13a1	T	C	10: 61,961,345	Y101C	probably damaging	Het
Crybg3	A	G	16: 59,503,150	I2809T	probably damaging	Het
Csgalnact1	C	A	8: 68,401,492	G219V	probably damaging	Het
Dgkz	T	C	2: 91,937,460	S824G	probably benign	Het
Dsg1c	T	A	18: 20,264,316	I27N	probably damaging	Het
Efhb	C	T	17: 53,401,624	V673I	probably benign	Het
Egr1	T	C	18: 34,862,863	Y233H	possibly damaging	Het
Fam184a	T	C	10: 53,675,160	E237G	probably damaging	Het
Galt	A	G	4: 41,755,623		probably benign	Het
Gm4795	T	C	10: 45,007,115		noncoding transcript	Het
Gm6563	G	A	19: 23,676,028	E61K	possibly damaging	Het
Igkv1-133	G	A	6: 67,725,606	V103M	probably damaging	Het
Iqcb1	T	A	16: 36,839,896	H140Q	probably benign	Het
Itpk1	G	T	12: 102,623,409	P74Q	probably damaging	Het
Itpr3	T	A	17: 27,098,179	W803R	probably damaging	Het
Lgr4	A	T	2: 110,002,501	D312V	probably benign	Het
Lgr4	C	T	2: 110,008,075		probably benign	Het
Lyst	G	A	13: 13,660,956	C1741Y	probably benign	Het
Mllt6	C	A	11: 97,670,332	A282E	probably benign	Het
Mtif2	T	C	11: 29,540,642	S449P	possibly damaging	Het
Nrg3	T	C	14: 38,371,312	I533M	probably damaging	Het
Nynrin	C	T	14: 55,871,710	Q1425*	probably null	Het
Olfr1148	A	G	2: 87,833,529	I163M	probably damaging	Het
Olfr1184	C	T	2: 88,487,427	H232Y	probably benign	Het
Olfr1469	T	A	19: 13,411,467	S299R	probably benign	Het
Olfr397	A	T	11: 73,964,862	M85L	probably benign	Het
Olfr679	T	A	7: 105,086,323	Y202*	probably null	Het
Olfr733	T	A	14: 50,299,114	N65I	probably damaging	Het
Olfr869	G	A	9: 20,137,220	V35I	probably benign	Het
Plcb4	C	T	2: 135,994,325	T20I	possibly damaging	Het
Ppp1r12b	G	T	1: 134,835,983	T771K	probably benign	Het
Prss22	T	C	17: 23,996,389	T138A	probably benign	Het
Ros1	A	T	10: 52,129,581	S907T	probably damaging	Het
Rtel1	T	A	2: 181,351,341	Y521*	probably null	Het
Sacs	T	C	14: 61,192,535	F678S	probably damaging	Het
Smtnl1	A	T	2: 84,817,028		probably benign	Het
Sumf2	T	C	5: 129,860,145	V258A	probably damaging	Het
Tas1r2	A	T	4: 139,669,516	Y722F	probably damaging	Het
Timd4	T	C	11: 46,815,731	F120S	probably damaging	Het
Tnnt3	T	C	7: 142,508,325		probably benign	Het
Trp53bp1	G	A	2: 121,236,589	S552F	probably damaging	Het
Txlnb	G	A	10: 17,830,342	R333Q	possibly damaging	Het
Txlnb	A	G	10: 17,841,528		probably benign	Het
Uroc1	A	G	6: 90,347,928	E461G	probably benign	Het
Vps45	G	A	3: 96,042,924	T231I	probably damaging	Het
Zfp648	T	A	1: 154,204,177	S27R	probably benign	Het

Other mutations in Tecpr1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01399:Tecpr1	APN	5	144208593	critical splice donor site	probably null
IGL01774:Tecpr1	APN	5	144211540	missense	probably damaging	0.97
IGL01960:Tecpr1	APN	5	144216919	missense	probably benign	0.00
IGL01973:Tecpr1	APN	5	144197988	splice site	probably benign
IGL02244:Tecpr1	APN	5	144210003	missense	probably benign
IGL02423:Tecpr1	APN	5	144203487	missense	possibly damaging	0.88
IGL02679:Tecpr1	APN	5	144206546	missense	probably benign	0.28
larghissimo	UTSW	5	144217257	missense	probably damaging	1.00
PIT4531001:Tecpr1	UTSW	5	144214067	missense	probably damaging	0.96
R0121:Tecpr1	UTSW	5	144210199	missense	probably benign	0.02
R0125:Tecpr1	UTSW	5	144197899	missense	probably damaging	1.00
R0194:Tecpr1	UTSW	5	144218517	missense	probably damaging	1.00
R0376:Tecpr1	UTSW	5	144207476	missense	possibly damaging	0.94
R0441:Tecpr1	UTSW	5	144195941	missense	probably benign
R0504:Tecpr1	UTSW	5	144214081	missense	probably damaging	0.99
R0538:Tecpr1	UTSW	5	144206274	missense	probably damaging	0.99
R0586:Tecpr1	UTSW	5	144217401	missense	probably damaging	1.00
R0607:Tecpr1	UTSW	5	144212590	missense	probably damaging	1.00
R0608:Tecpr1	UTSW	5	144211499	missense	probably damaging	1.00
R0656:Tecpr1	UTSW	5	144214053	splice site	probably null
R0835:Tecpr1	UTSW	5	144212592	missense	possibly damaging	0.81
R1080:Tecpr1	UTSW	5	144216929	missense	probably damaging	1.00
R1394:Tecpr1	UTSW	5	144206539	missense	possibly damaging	0.77
R1597:Tecpr1	UTSW	5	144214310	missense	probably benign	0.00
R1663:Tecpr1	UTSW	5	144197944	missense	probably benign	0.17
R1785:Tecpr1	UTSW	5	144208645	missense	probably benign	0.01
R1786:Tecpr1	UTSW	5	144208645	missense	probably benign	0.01
R1833:Tecpr1	UTSW	5	144208608	missense	probably damaging	0.99
R1883:Tecpr1	UTSW	5	144206529	missense	probably benign	0.03
R1988:Tecpr1	UTSW	5	144204697	missense	possibly damaging	0.94
R2130:Tecpr1	UTSW	5	144208645	missense	probably benign	0.01
R2131:Tecpr1	UTSW	5	144208645	missense	probably benign	0.01
R2132:Tecpr1	UTSW	5	144208645	missense	probably benign	0.01
R2133:Tecpr1	UTSW	5	144208645	missense	probably benign	0.01
R2172:Tecpr1	UTSW	5	144196417	missense	probably damaging	1.00
R2172:Tecpr1	UTSW	5	144211456	missense	probably benign	0.10
R2290:Tecpr1	UTSW	5	144214063	missense	probably damaging	0.99
R3691:Tecpr1	UTSW	5	144209979	missense	probably benign	0.10
R4027:Tecpr1	UTSW	5	144206259	missense	probably benign	0.41
R4587:Tecpr1	UTSW	5	144212590	missense	probably damaging	0.96
R4684:Tecpr1	UTSW	5	144207437	missense	probably benign	0.16
R4864:Tecpr1	UTSW	5	144214117	missense	probably benign	0.00
R4932:Tecpr1	UTSW	5	144204658	missense	probably damaging	0.97
R4955:Tecpr1	UTSW	5	144217257	missense	probably damaging	1.00
R5043:Tecpr1	UTSW	5	144197854	splice site	probably null
R5459:Tecpr1	UTSW	5	144207416	missense	probably damaging	1.00
R5579:Tecpr1	UTSW	5	144214344	missense	possibly damaging	0.55
R5677:Tecpr1	UTSW	5	144218633	nonsense	probably null
R5679:Tecpr1	UTSW	5	144207423	missense	possibly damaging	0.69
R5802:Tecpr1	UTSW	5	144206546	missense	probably benign	0.28
R6000:Tecpr1	UTSW	5	144211421	missense	probably benign	0.02
R6022:Tecpr1	UTSW	5	144199191	missense	possibly damaging	0.95
R6114:Tecpr1	UTSW	5	144204640	missense	possibly damaging	0.81
R6251:Tecpr1	UTSW	5	144198576	missense	probably damaging	0.97
R6372:Tecpr1	UTSW	5	144216958	missense	probably damaging	1.00
R6493:Tecpr1	UTSW	5	144209974	missense	probably benign
R7276:Tecpr1	UTSW	5	144217020	nonsense	probably null
R7314:Tecpr1	UTSW	5	144217332	missense	probably damaging	1.00
R7375:Tecpr1	UTSW	5	144208599	missense	possibly damaging	0.68
R7632:Tecpr1	UTSW	5	144218726	missense	probably benign	0.03
R7702:Tecpr1	UTSW	5	144203418	missense	probably damaging	1.00
R8135:Tecpr1	UTSW	5	144198602	missense	probably damaging	0.99
R8406:Tecpr1	UTSW	5	144200840	missense	probably damaging	1.00
R8844:Tecpr1	UTSW	5	144216299	missense	possibly damaging	0.94
R8856:Tecpr1	UTSW	5	144216299	missense	possibly damaging	0.94
R8857:Tecpr1	UTSW	5	144216299	missense	possibly damaging	0.94
R8866:Tecpr1	UTSW	5	144216299	missense	possibly damaging	0.94
R8926:Tecpr1	UTSW	5	144216962	missense	probably damaging	1.00
RF001:Tecpr1	UTSW	5	144217386	missense	probably damaging	0.99
Z1176:Tecpr1	UTSW	5	144218591	missense	probably benign	0.28

Posted On

2015-04-16